遗传性出血性毛细血管扩张症I型合并脾窦岸细胞血管瘤患儿1例的遗传学分析  

Genetic analysis of a child with Hereditary hemorrhagic telangiectasia typeⅠin conjunct with Splenic sinus shore cell hemangioma

作　　者：罗雪颜 段福慧 马江磊 王光明 Luo Xueyan;Duan Fuhui;Ma Jianglei;Wang Guangming(Gene Testing Center,the First Affiliated Hospital of Dali University,Dali,Yunnan 671013,China;Center for Disease Control and Prevention of Dali City,Dali,Yunnan 671014,China;Clinical Medicine School,Dali University,Dali,Yunnan 671000,China)

机构地区：[1]大理大学第一附属医院基因检测中心,大理671013 [2]大理市疾病预防控制中心,大理671014 [3]大理大学临床医学院,大理671000

出　　处：《中华医学遗传学杂志》2024年第8期925-930,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(82160244);大理大学第一附属医院临床医学学科队伍建设项目(DFYXK2023002)。

摘　　要：目的探讨1例ENG基因变异所致的I型遗传性出血性毛细血管扩张症(HHTⅠ)合并有脾窦岸细胞血管瘤(LCA)患儿的遗传学病因。方法选取2022年4月就诊于大理大学第一附属医院的1例HHT合并LCA的患儿作为研究对象,回顾性分析患儿及其亲属的临床资料,通过全外显子组测序筛选候选变异,同Sanger测序和生物信息学分析进行家系验证及致病性分析。结果患儿为16岁女性,自幼有反复鼻出血史,有时无法自行停止,需到医院治疗。患儿本次因鼻出血不能自止来院就诊。既往曾因"脾破裂"接受脾切除,诊断为LCA。患儿的父亲和奶奶也有反复鼻出血的病史,均已故,父亲死因为"脑血管破裂"。患儿被发现携带ENG基因c.360+1G>A变异,母亲及弟弟无类似症状,且未携带该变异。结论ENG基因c.360+1G>A变异可能是该患儿HHT合并LCA的遗传学病因。ObjectiveTo explore the genetic basis and pathogenesis for a child with typeⅠHereditary hemorrhagic telangiectasia(HHTⅠ)and Splenic sinus shore cell hemangioma(LCA).MethodsA child with HHT complicated with LCA diagnosed at the First Affiliated Hospital of Dali University in April 2022 was selected as the study subject.Clinical data of the child and her relatives were collected,and pathogenic variants were screened by whole exome sequencing.Candidate variant was verified by Sanger sequencing and bioinformatic analysis.ResultsThe patient,a 16-year-old female,had recurrent epitaxis since childhood,which sometimes necessitated hemostasis treatment.She also had splenectomy due to splenic rupture and was diagnosed with LCA.Her father and grandmother also had a history of recurrent epitaxis.Her father had deceased due to cerebral vascular rupture.The child was found to harbor a c.360+1G>A variant in the ENG gene.The same variant was not found in her asymptomatic mother and brother.ConclusionThe c.360+1G>A variant of the ENG gene probably underlay the pathogenesis in this child.

关 键 词：毛细血管扩张 遗传性出血性 遗传性出血性毛细血管扩张症I型 ENG基因 剪接变异 基因测序 脾窦岸细胞血管瘤 

分 类 号：R725.9[医药卫生—儿科]